DisGeNET - a database of gene-disease associations

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	20
rs657152	ABO	0.882	0.200	9	133263862	intron variant	A/C;T	snv			14
rs505922	ABO	0.689	0.520	9	133273813	intron variant	C/T	snv			12
rs10468017	ALDH1A2	0.851	0.120	15	58386313	intron variant	C/T	snv		0.24	10
rs612169	ABO			9	133268030	intron variant	G/A	snv			10
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	10
rs1532085	ALDH1A2	0.882	0.080	15	58391167	intron variant	A/G;T	snv			9
rs687289	ABO	1.000	0.120	9	133261703	intron variant	A/G	snv			9
rs687621	ABO	0.851	0.240	9	133261662	intron variant	G/A;C	snv			9
rs1864163	CETP	0.882	0.120	16	56963321	intron variant	G/A	snv		0.26	8
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv			8
rs529565	ABO	0.851	0.120	9	133274084	intron variant	C/T	snv			8
rs545971	ABO			9	133267960	intron variant	T/A;C	snv			8
rs674302	ABO			9	133271249	intron variant	A/T	snv			8
rs1532624	CETP	0.851	0.160	16	56971567	intron variant	C/A	snv		0.34	7
rs2075290	ZPR1	0.882	0.160	11	116782580	intron variant	C/G;T	snv			7
rs2650000	HNF1A-AS1	0.851	0.200	12	120951159	intron variant	A/C	snv		0.70	7
rs4775041	ALDH1A2	1.000	0.040	15	58382496	intron variant	G/C	snv		0.24	7
rs643434	ABO			9	133266942	intron variant	A/G;T	snv			7
rs644234	ABO			9	133266804	intron variant	G/T	snv			7
rs6589566	ZPR1	0.882	0.080	11	116781707	intron variant	G/A;C;T	snv			7
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	6
rs283813	NECTIN2	1.000	0.080	19	44885917	intron variant	T/A	snv	0.11	0.16	6
rs7203984	CETP			16	56965346	intron variant	A/C	snv		0.31	6
rs7499892	CETP			16	56972678	intron variant	C/G;T	snv			6